Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 6-7, Pages 389-393Publisher
ELSEVIER
DOI: 10.1016/j.ejmg.2012.02.006
Keywords
Interferon regulatory factor 6 (IRF6); Cleft lip only; Non-syndromic oral clefts; Mixed clefting; Van der Woude syndrome
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Funding
- RU grant [1001/PPSP/812083]
- Universiti Sains Malaysia Fellowship [1001/441/CIPS/JHEA/AUPE001]
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Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients with a family history of cleft, were examined for IRF6 mutations in the present study. Seven variants, including five known (c.-75-4 A>; G, c.-73T>; C, c.459G>; T 5, c.820G>; A, and c. 1060 + 37C>; T) and two novel (c.-75-23G>; C and c.1380G>; T), were found. Both novel variants were inherited from non-affected parents and we did not find also in the 120 control chromosomes. In silico analysis revealed that both c.1380G>; T and c.-75-23G>; C variants may disrupts a putative exonic splicing enhancer and intronic splicing binding site for SC35, respectively. Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS. While, IRF6 variants could, at best, contribute to clefting as part of a complex inheritance pattern, with both additional genes and environmental factors having a role. (c) 2012 Elsevier Masson SAS. All rights reserved.
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